| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.54278380C>A | CA356893858 | PDGFRA | c.2021C>A (p.Thr674Lys) c.1301C>A (p.Thr434Lys) n.447C>A n.1839C>A c.2096C>A (p.Thr699Lys) c.2060C>A (p.Thr687Lys) | dbSNP |
| 4 | g.54278380C>T | CA123215 | PDGFRA | c.2021C>T (p.Thr674Ile) c.1301C>T (p.Thr434Ile) n.447C>T n.1839C>T c.2096C>T (p.Thr699Ile) c.2060C>T (p.Thr687Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
| 4 | g.54278380C>G | CA356893859 | PDGFRA | c.2021C>G (p.Thr674Arg) c.1301C>G (p.Thr434Arg) n.447C>G n.1839C>G c.2096C>G (p.Thr699Arg) c.2060C>G (p.Thr687Arg) | dbSNP gnomAD v4 |